Fig. 4: Variation near BMP2 and BBS9 comprises risk for sagittal nonsyndromic craniosynostosis.
From: Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
a LocusZoom plot around rs6054748 near BMP2. P-values (CCA, upper-tail chi squared) are show for cranial vault segment 4 where rs6054748 was most significant. Sagittal NCS risk SNP rs1884302 from Justice et al. (2012) is also indicated. b LocusZoom plot around rs148673350 intronic in BBS9. P-values (CCA, upper-tail chi squared) are show for cranial vault segment 1 where rs148673350 was most significant. Sagittal NCS risk SNP rs10262453 from Justice et al. (2012) is also indicated. The color in a and b indicates the LD (r2) with the lead SNP (purple diamond). c, d Exaggerated depiction of the latent cranial vault shape associated with both alleles of rs6054748 near BMP2. Arrows indicate the direction of deformation with regard to the mean cranial vault shape. e Latent cranial vault shape associated with rs6054748 near BMP2, visualized on the mean cranial vault shape. Blue and red indicate an inward and outward deformation respectively.
